Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters

Am J Med. 1980 Jul;69(1):64-74. doi: 10.1016/0002-9343(80)90501-x.


Three adult sisters with osteopetrosis in infancy had spontaneous resolution of bone modeling defects and osteosclerosis. During adolescence, basal ganglia calcification developed in two. Renal tubular acidosis (type I) was diagnosed in each during early adulthood. The disorder was transmitted apparently as a recessive trait--the same mode of inheritance as for the "malignant" form of osteopetrosis which is usually fatal during childhood. Electron microscopy of bone suggested that osteoclasts failed to form "ruffled membranes" characteristic of active bone resorbing cells. Chronic systemic acidosis may have ameliorated the skeletal manifestations of this new syndrome.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acidosis, Renal Tubular / genetics*
  • Acidosis, Renal Tubular / pathology
  • Adult
  • Basal Ganglia Diseases / genetics*
  • Basal Ganglia Diseases / pathology
  • Biopsy
  • Bone and Bones / pathology
  • Calcinosis / genetics
  • Female
  • Genes, Recessive
  • Humans
  • Kidney Function Tests
  • Microscopy, Electron
  • Osteopetrosis / genetics*
  • Osteopetrosis / pathology
  • Pedigree
  • Syndrome